Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.M74delFs
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MMACHC

NM_015506.3:p.M74delFs

Associated Papers

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.

Rafat C et al.

Clinical Kidney Journal, 2023

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.

Kalantari S et al.

Orphanet Journal of Rare Diseases, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."